Incidental Mutation 'IGL03096:5730455P16Rik'
| ID |
418565 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
5730455P16Rik
|
| Ensembl Gene |
ENSMUSG00000057181 |
| Gene Name |
RIKEN cDNA 5730455P16 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
IGL03096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
80251318-80268860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80265005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 149
(F149S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103225]
[ENSMUST00000134274]
[ENSMUST00000179332]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103225
AA Change: F129S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099515
Gene: ENSMUSG00000057181
AA Change: F129S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
31 |
N/A |
INTRINSIC |
|
Pfam:Njmu-R1
|
38 |
390 |
1.5e-204 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134274
AA Change: F149S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120606
Gene: ENSMUSG00000057181
AA Change: F149S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
58 |
N/A |
INTRINSIC |
|
Pfam:Njmu-R1
|
62 |
214 |
1.6e-84 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179332
AA Change: F129S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135972
Gene: ENSMUSG00000057181
AA Change: F129S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
31 |
N/A |
INTRINSIC |
|
Pfam:Njmu-R1
|
38 |
391 |
5.9e-231 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
A |
T |
5: 36,040,743 (GRCm39) |
K103* |
probably null |
Het |
| Anapc4 |
C |
T |
5: 53,023,271 (GRCm39) |
T704I |
possibly damaging |
Het |
| Ccar1 |
A |
T |
10: 62,600,112 (GRCm39) |
D606E |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,904,670 (GRCm39) |
I357V |
probably benign |
Het |
| Col7a1 |
C |
A |
9: 108,784,856 (GRCm39) |
P228H |
unknown |
Het |
| Dock4 |
A |
G |
12: 40,798,000 (GRCm39) |
I875V |
probably benign |
Het |
| Fndc3a |
A |
T |
14: 72,836,559 (GRCm39) |
S67T |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,912,760 (GRCm39) |
T3355A |
probably damaging |
Het |
| Gtf3a |
G |
A |
5: 146,890,763 (GRCm39) |
R248Q |
probably damaging |
Het |
| Hcrtr2 |
T |
A |
9: 76,161,908 (GRCm39) |
M161L |
probably benign |
Het |
| Il27ra |
G |
T |
8: 84,758,161 (GRCm39) |
L530M |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,293 (GRCm39) |
E305G |
probably damaging |
Het |
| Map3k6 |
A |
T |
4: 132,978,656 (GRCm39) |
K1086* |
probably null |
Het |
| Neb |
T |
C |
2: 52,139,484 (GRCm39) |
I3044V |
possibly damaging |
Het |
| Ntng1 |
A |
T |
3: 110,042,665 (GRCm39) |
S54T |
probably benign |
Het |
| Or6c208 |
T |
C |
10: 129,224,318 (GRCm39) |
V272A |
probably damaging |
Het |
| Pah |
T |
C |
10: 87,374,104 (GRCm39) |
|
probably null |
Het |
| Pex3 |
A |
T |
10: 13,410,407 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,599,126 (GRCm39) |
|
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,577,485 (GRCm39) |
D89G |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,957,689 (GRCm39) |
D250E |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,529,928 (GRCm39) |
G144S |
unknown |
Het |
| Rad51c |
A |
G |
11: 87,279,472 (GRCm39) |
L304P |
probably damaging |
Het |
| Rnf20 |
A |
C |
4: 49,638,615 (GRCm39) |
|
probably benign |
Het |
| Six3 |
A |
G |
17: 85,929,365 (GRCm39) |
N233S |
possibly damaging |
Het |
| Slc2a9 |
T |
A |
5: 38,508,572 (GRCm39) |
I476F |
probably damaging |
Het |
| Trps1 |
A |
C |
15: 50,709,875 (GRCm39) |
H154Q |
probably benign |
Het |
| Uvssa |
T |
C |
5: 33,568,268 (GRCm39) |
V552A |
probably benign |
Het |
| Vmn2r118 |
T |
G |
17: 55,914,996 (GRCm39) |
N550T |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,487,751 (GRCm39) |
I208K |
probably damaging |
Het |
|
| Other mutations in 5730455P16Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:5730455P16Rik
|
APN |
11 |
80,267,638 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
PIT4431001:5730455P16Rik
|
UTSW |
11 |
80,254,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0383:5730455P16Rik
|
UTSW |
11 |
80,254,767 (GRCm39) |
nonsense |
probably null |
|
|
R0635:5730455P16Rik
|
UTSW |
11 |
80,264,891 (GRCm39) |
splice site |
probably benign |
|
|
R1376:5730455P16Rik
|
UTSW |
11 |
80,254,735 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1376:5730455P16Rik
|
UTSW |
11 |
80,254,735 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1598:5730455P16Rik
|
UTSW |
11 |
80,254,838 (GRCm39) |
nonsense |
probably null |
|
|
R1953:5730455P16Rik
|
UTSW |
11 |
80,268,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:5730455P16Rik
|
UTSW |
11 |
80,258,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4056:5730455P16Rik
|
UTSW |
11 |
80,266,329 (GRCm39) |
splice site |
probably benign |
|
|
R4612:5730455P16Rik
|
UTSW |
11 |
80,268,806 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
|
R4777:5730455P16Rik
|
UTSW |
11 |
80,265,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:5730455P16Rik
|
UTSW |
11 |
80,266,346 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4847:5730455P16Rik
|
UTSW |
11 |
80,264,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5489:5730455P16Rik
|
UTSW |
11 |
80,268,778 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7125:5730455P16Rik
|
UTSW |
11 |
80,255,751 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8049:5730455P16Rik
|
UTSW |
11 |
80,268,798 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9600:5730455P16Rik
|
UTSW |
11 |
80,261,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation